Experience. Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others have experience diagnosing and treating people who have adrenoleukodystrophy and other neurological conditions.

Team approach. Mayo Clinic pediatric neurologists work with doctors trained in adrenal hormone function (endocrinologists) and others to develop the most appropriate treatment for your condition.

Diagnostic and genetic testing. Mayo Clinic doctors conduct genetic testing and research for people who have adrenoleukodystrophy and their families. The Biochemical Genetics Laboratory at Mayo Clinic in Rochester, Minnesota, is one of the few facilities in the United States that performs blood tests to confirm the diagnosis of adrenoleukodystrophy.

Treatment expertise. Mayo Clinic doctors have expertise in providing comprehensive care for children and adults who have adrenoleukodystrophy. The Mayo Clinic Peroxisomal Disorders Program at Mayo Clinic in Rochester, Minnesota, provides integrated care, including stem cell transplantation, for people who have all forms of ALD.

Types

X-linked adrenoleukodystrophy (ALD)

X-linked adrenoleukodystrophy (ALD) is a type of genetic condition (leukodystrophy) that damages the membrane surrounding nerve cells in your brain (myelin sheath). X-linked ALD is caused by a genetic defect on the X chromosome.

The condition may occur as childhood-onset ALD or as an adult-onset form of the condition (adrenomyeloneuropathy). The condition affects males more severely females, who carry the disease.

Childhood-onset ALD is a form of X-linked ALD that usually occurs between ages 4 and 10. The white matter of the brain is progressively damaged (leukodystrophy) and symptoms worsen over time. If not diagnosed early, childhood-onset ALD may lead to death within five to 10 years.

The adult-onset form (adrenomyeloneuropathy) is a less severe and slowly progressive form of ALD and causes symptoms such as a stiff gait and bladder and bowel dysfunction.

Hormone-producing glands (adrenal glands) often fail to produce enough steroids (adrenal insufficiency) in people who have ALD.

In Addison's disease, a type of X-linked ALD, people have severe adrenal insufficiency. Neurological symptoms may or may not develop in people who have Addison's disease. Most men with neurological symptoms do develop adrenal insufficiency and require monitoring by an endocrinologist.

Women who carry the condition may develop a mild form of adrenomyeloneuropathy.

Mayo Clinic in Rochester, Minn., ranks No. 1 for neurology and neurosurgery in the U.S. News & World Report Best Hospitals rankings. Mayo Clinic in Scottsdale, Ariz., and Mayo Clinic in Jacksonville, Fla., are ranked among the Best Hospitals for neurology and neurosurgery by U.S. News & World Report. Mayo Clinic also ranks among the Best Children's Hospitals for neurology and neurosurgery.

Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others work together to diagnose your condition. Mayo Clinic doctors have experience diagnosing adrenoleukodystrophy (ALD), which may be difficult to diagnose because the symptoms are similar to other neurological conditions.

To diagnose your condition, your doctor will review your symptoms and your medical and family history. Your doctor will conduct a physical examination and order several tests.

Blood testing. These tests check for high levels of very long-chain fatty acids (VLCFA) in your blood, which are a key indicator of adrenoleukodystrophy.

Doctors use blood samples for genetic testing to identify defects or mutations that cause ALD. Doctors also use blood tests to evaluate how well your adrenal glands work.

MRI. Powerful magnets and radio waves create detailed images of your brain in an MRI scan, allowing doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue (white matter) of your brain. Doctors may use several types of MRI to view the most detailed images of your brain and detect early signs of leukodystrophy.

Vision screening. Measuring visual responses can monitor disease progression in males who have no other symptoms.

Skin biopsy and fibroblast cell culture. A small sample of skin may be taken to check for increased levels of VLCFA in some cases.

Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others work together to determine the most appropriate treatment for people who have adrenoleukodystrophy (ALD).

Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression.

Your treatment options may include:

Stem cell transplant. This may be an option to slow or halt the progression of adrenoleukodystrophy in children if the disease is diagnosed and treated early. Stem cells may be taken from bone marrow through bone marrow transplant.

Adrenal insufficiency treatment. Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy).

Medications. Your doctor may prescribe medications to help relieve symptoms, including stiffness and seizures.

Genetic counseling. Your treatment may include genetic counseling for you and your family. Mayo Clinic doctors trained in hereditary conditions (neurometabolic specialists) explain your diagnosis and the role of genes in your condition. Doctors strongly recommend that you and your family receive genetic testing and counseling.

Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people. In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.

For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.

Doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists) and others study potential diagnostic tests, improved treatments and outcomes for adrenoleukodystrophy (ALD). Learn more about research in neurology, pediatric neurology, and blood and marrow transplant.

Doctors study potential treatments, including:

Medications to lower very long-chain fatty acids levels in your blood

Lorenzo's oil, a mixture of chemicals, which may help reduce or delay symptoms of ALD by inhibiting the enzyme that causes the lengthening of saturated fatty acids

Gene therapy to slow progress of the condition

Researchers in the Biochemical Genetics Laboratory at Mayo Clinic in Rochester, Minnesota, study new tests for adrenoleukodystrophy. The Biochemical Genetics Laboratory is one of the few facilities in the United States that performs blood tests to confirm the diagnosis of adrenoleukodystrophy and other metabolic disorders.

See a list of publications by Mayo doctors on adrenoleukodystrophy and adrenomyeloneuropathy on PubMed, a service of the National Library of Medicine.

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